Base editing corrects the common Salla disease SLC17A5 c.115C>T variant
Jerry Harb, Chloe Christensen, Shih‐hsin Kan, Allisandra Rha, Perla Andrade-Heckman, Laura Pollard, Richard Steet, Jeffrey Y. Huang, Raymond Wang
Abstract
c.115C>T and highlights the usefulness of base editing in monogenic diseases where transmembrane protein function is impaired.
Topics & Concepts
CRISPRGenome editingIndelBiologyGeneticsTransmembrane proteinGeneMutationCompound heterozygosityCas9Molecular biologyGenotypeReceptorSingle-nucleotide polymorphismCRISPR and Genetic EngineeringCellular transport and secretionLysosomal Storage Disorders Research